ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer)

gnomAD frequency: 0.00001  dbSNP: rs796053242
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189333 SCV000242968 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000636391 SCV000757830 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys246*) in the SLC25A22 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A22 are known to be pathogenic (PMID: 15592994, 19780765). This variant is present in population databases (rs796053242, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC25A22-related conditions. ClinVar contains an entry for this variant (Variation ID: 207174). For these reasons, this variant has been classified as Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000189333 SCV000886124 likely pathogenic not provided 2018-05-30 criteria provided, single submitter clinical testing The SLC25A22 c.735_736delCT; p.Cys246Ter variant (rs796053242), to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is reported in the ClinVar Database (Variation ID: 207174), but is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes two nucleotides leading to an immediate termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is classified as likely pathogenic. Pathogenic SLC25A22 variants are causative for autosomal recessive early infantile epileptic encephalopathy (MIM: 609304).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.